A49T (p.Ala49Thr) variant of SOCS1 (O15524)
A49T (p.Ala49Thr) in SOCS1 (O15524) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
A49T (p.Ala49Thr) variant details
- p.Ala49Thr
- 1000Genomes rs760692169
- ExAC rs760692169
- TOPMed rs760692169
- gnomAD rs760692169
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- REVEL 0.03
- CADD 16.60
- PolyPhen-2 0.24
- SIFT 0.40
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available